Simone Gana
Pavia, 27100, Italy
Last Updated: 09/26/2026
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Found 50 publications
KIF5C-Related Neurodevelopmental Disorder: Three New Cases and Additional Neuroradiologic Insights.
Journal: Neurology. Genetics
Published: July 14, 2025
Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.
Journal: Journal of medical genetics
Published: June 09, 2025
Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.
Journal: Genes
Published: June 03, 2025
De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Journal: Nature genetics
Published: June 02, 2025
Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.
Journal: Neurogenetics
Published: April 03, 2025
Asymmetric Parietal Cortical Atrophy in a Patient with RAB39B-Associated Parkinsonism.
Journal: Movement disorders clinical practice
Published: March 30, 2025
De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.
Journal: medRxiv : the preprint server for health sciences
Published: January 20, 2025
A de novo ZMYM2 gene variant associated to a Rett-like phenotype: Case report of a new phenotype and review of the literature.
Journal: Brain & development
Published: October 17, 2024
National survey on the prevalence of single-gene aetiologies for genetic developmental and epileptic encephalopathies in Italy.
Journal: Journal of medical genetics
Published: August 19, 2024
Novel HYLS1 variants associated with Joubert syndrome suggest potential genotype-phenotype correlates.
Journal: Journal of medical genetics
Published: August 08, 2024
Bilateral Dentate Nuclei Hyperintensities and Response to 4-Aminopyridine in a Patient With Childhood-Onset GAA-FGF14-Related Ataxia.
Journal: Neurology. Genetics
Published: June 04, 2024
Last Updated: 09/26/2026